Linked Data
ClinVar Variation Id:
283501
dbSNP Id:
rs202106628
ExAC:
21:46924451 G / A
gnomAD v2:
21-46924451-G-A
gnomAD v3:
21-45504537-G-A
gnomAD v4:
21-45504537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504537G>A , CM000683.2:g.45504537G>A | GRCh38 |
| NC_000021.8:g.46924451G>A , CM000683.1:g.46924451G>A | GRCh37 |
| NC_000021.7:g.45748879G>A | NCBI36 |
| NG_011903.1:g.104346G>A | |
| NG_028278.2:g.63607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3389G>A (COL18A1) | ENSP00000347665.5:p.Arg1130His | |
| ENST00000651438.1:c.2849G>A (COL18A1) MANE Select | ENSP00000498485.1:p.Arg950His | |
| ENST00000342220.9:c.890G>A (COL18A1) | ENSP00000339118.5:p.Arg297His | |
| ENST00000355480.9:c.3389G>A (COL18A1) | ENSP00000347665.5:p.Arg1130His | |
| ENST00000359759.8:c.4094G>A (COL18A1) | ENSP00000352798.4:p.Arg1365His | |
| ENST00000400337.6:c.2849G>A (COL18A1) | ENSP00000383191.2:p.Arg950His | |
| ENST00000417954.5:c.498-5925C>T (SLC19A1) | ||
| ENST00000567670.5:c.1294-5925C>T (SLC19A1) | ENSP00000457278.1:n.1294-5925C>T | |
| NM_030582.3:c.3380G>A (COL18A1) | NP_085059.2:p.Arg1127His | |
| NM_130444.2:c.4085G>A (COL18A1) | NP_569711.2:p.Arg1362His | |
| NM_130445.3:c.2840G>A (COL18A1) | NP_569712.2:p.Arg947His | |
| XM_011529707.1:c.1585-1568C>T (SLC19A1) | XP_011528009.1:n.1585-1568C>T | |
| XM_017028445.2:c.1585-1568C>T (SLC19A1) | XP_016883934.1:n.1585-1568C>T | |
| NM_030582.4:c.3380G>A (COL18A1) | NP_085059.2:p.Arg1127His | |
| NM_130444.3:c.4085G>A (COL18A1) | NP_569711.2:p.Arg1362His | |
| NM_130445.4:c.2840G>A (COL18A1) | NP_569712.2:p.Arg947His | |
| NM_001379500.1:c.2849G>A (COL18A1) MANE Select | NP_001366429.1:p.Arg950His |